Journal of Autism and Developmental Disorders

, Volume 34, Issue 6, pp 615–623

Relative Carnitine Deficiency in Autism

  • Pauline A. Filipek
  • Jenifer Juranek
  • Minh T. Nguyen
  • Christa Cummings
  • J. Jay Gargus
Article

DOI: 10.1007/s10803-004-5283-1

Cite this article as:
Filipek, P.A., Juranek, J., Nguyen, M.T. et al. J Autism Dev Disord (2004) 34: 615. doi:10.1007/s10803-004-5283-1

Abstract

A random retrospective chart review was conducted to document serum carnitine levels on 100 children with autism. Concurrently drawn serum pyruvate, lactate, ammonia, and alanine levels were also available in many of these children. Values of free and total carnitine (p < 0.001), and pyruvate (p=0.006) were significantly reduced while ammonia and alanine levels were considerably elevated (p < 0.001) in our autistic subjects. The relative carnitine deficiency in these patients, accompanied by slight elevations in lactate and significant elevations in alanine and ammonia levels, is suggestive of mild mitochondrial dysfunction. It is hypothesized that a mitochondrial defect may be the origin of the carnitine deficiency in these autistic children.

Keywords

Lactic acidosismitochondrial disease autism hyperammonemia

Copyright information

© Springer Science+Business Media, Inc. 2004

Authors and Affiliations

  • Pauline A. Filipek
    • 1
    • 2
    • 5
  • Jenifer Juranek
    • 1
  • Minh T. Nguyen
    • 1
  • Christa Cummings
    • 1
  • J. Jay Gargus
    • 1
    • 3
    • 4
  1. 1.Department of Pediatrics, College of MedicineUniversity of CaliforniaIrvineUSA
  2. 2.Division of Child Neurology, College of MedicineUniversity of CaliforniaIrvineUSA
  3. 3.Division of Human Genetics, College of MedicineUniversity of CaliforniaIrvineUSA
  4. 4.Department of Physiology and Biophysics, College of MedicineUniversity of CaliforniaIrvineUSA
  5. 5.UCI Medical CenterOrangeUSA